Topics

combination of DF508/NM_0004923
My husband and I were found to be carriers of CF mutations. I have the DF508 mutation, and my husband carries the ΝΜ_0004923 mutation. What happens in this situation? What are the chances for our child to have CF? Thank you.
11.05.2018
DF508 mutation and mutation of unknown significance
I am 22 weeks pregnant in my second child. I was to be a carrier of the DF508 mutation, while my husband carries the c3118c>T (L1040f) mutation, of unknown clinical significance. We were not tested when we had our first child, and the geneticians advised us to test our firstborn, who was found to ...
04.05.2018
c81c mutation
My wife is 21 weeks pregnant. She was tested and found a carrier of the DF508 mutation. I was tested as well and I was found to carry the c81c>T mutation. My wife had an amniocentesis. The fetus was found to carry the DF508 mutation and we await the results for my mutation. What are the chances ...
09.03.2018
Nucleoitc change of unknown significance
I am 16 weeks pregnant and I was tested for 99% of CF mutations for purely preventive reasons, as there is no history of CF in my family, or in my husband’s family. The results showed the nucleotic change c.1001G>A (.Arg334Gin) in the CFTR gene in heterozygote condition and that there are not ...
09.02.2018
Genotype 7T
I am 12 weeks pregnant and have been checked for CF mutations (47 mutations). The results were negative for the most frequent mutations (46 mutations). The sample shows the genotype 7T/7T at position IVS8 polyT in the CFTR gene. Is it something I must worry about? My spouse has not been tested. ...
19.01.2018
Carrier of CF mutation
I am 34 years old at 21st gestational week. I am a carrier of r75Q after checking for 85% of CF mutations. My husband was checked for 99% of CF mutations and he was found to carry S977C (unknown clinical importance). The genetist expert advised us not to proceed to amniocentesis, since the mutation ...
19.01.2018
Cystic Fibrosis
After the genetic testing for CF mutations my wife was found to be a carrier of the c.476T>C, L159S exon 4 mutation. She is now 16 weeks pregnant. I am being tested for the 95% of CF mutations. In case I am a carrier of a CF mutation, what chances does the fetus have to suffer from CF and what kind ...
07.01.2018
Genetic testing
Our doctor suggested to me and my husband to get tested for 87% of CF mutations. If one of us is proved to be a carrier, then the test should be repeated covering 98% of the CF mutations. My question is if this kind of testing is safe, or should at least one of us be tested for 98% of the CF ...
12.12.2017
Carrier or patient?
My son is 10 months old, weighs 8 kg and is 75 cm tall. He suffered from dehydration last summer and we were hospitilised. We discovered that he carries the del508 mutation. We did two sweat tests at Hippokation Hospital and both were negative (values 22 and 23). We were tested for 85% of CF ...
12.12.2017
Mutation class R352Q/2184insA
Hello, our daughter has the following mutation: R352Q/2184insA, after intensive search I could not find the class of the mutations, even not in the database www.cftr2.org. Can you tell me; - how many people have this mutation? - to which class this mutations belong? - what does this mean ...
09.09.2017
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